Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscular dystrophy with a high prevalence in the French Canadian population. We report linkage analysis with 7 chromosome 14q polymorphic markers in 11 large French Canadian families. An observed recombination in one family establishes D14S283 as the new centromeric flanking marker, therefore reducing the previously reported candidate interval from 5cM to 2cM. The highest two-point LOD score was 26.05 at θ = 0.01 for MYH7.1. Multipoint analysis suggested that the OPMD genes lies within a 1.5cM region around D14S990. This study of large French Canadian families underlines the great power of this population to fine map disease genes.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.